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  2. europepmc.org europepmc.org
    In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia
    1
    1. ClingenBaseline 22 Oct 2026

      Supplemental Table S1:

      Case3: Male, USA, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Severe life threatening bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: >5% αIIbβ3 expression

      PlateletAggregation: Absent platelet aggregation (all the information that is provided in Supp. Table S1)

      CasePreviousTesting: Sanger sequencing of exons, splice sites and untranslated regions of the ITGA2B and ITGB3 genes was performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1553T>A (p.Ile518Asn) and NM_000419.3:c.1946+3G>T

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8603038 and CA626121071

      gnomAD: MAF in the European (non-Finnish) population is 0.000008790 https://gnomad.broadinstitute.org/variant/17-42457661-A-T and MAF in the African population is 0.000 https://gnomad.broadinstitute.org/variant/17-42456008-C-A

      PreviouslyPublished: PMID: 25728920

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Mutation:Missense Zygosity:CompoundHeterozygous PreviousTesting:Full CAiD:CA8603038 CAiD:CA626121071 ProteinExpression:Reported PlateletAggregation:MinimalInformation PreviouslyPublished SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    europepmc.org/article/med/29385657
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    REV_ISS_WEB_BJH_14283_175-4 686..695
    1
    1. ClingenBaseline 22 Oct 2026

      Supplementary Table S1:

      Case29: GT34, USA, gender and age not specified

      DiseaseAssertion: Glanzmann thrombasthenia type I

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: All patients had a life-long history of mucocutaneous bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: All patients in this study met the clinical and platelet function requirements for GT-- this includes an absent or strongly reduced expression of alphaIIbBeta3 in platelets

      PlateletAggregation: All patients in this study met the clinical and platelet function requirements for GT-- this includes absent or severely reduced platelet aggregation with at least three physiological agonists

      CasePreviousTesting: Sanger sequencing was performed. Sanger sequencing ensured coverage of all exons and splice sties of the ITGA2B and ITGB3 genes and extended 300-500 bp into the introns as well as including the UTR. They sequenced 416 bp upstream of the ITGA2B promoter and 463 bp upstream of the ITGB3 promoter. In total they sequenced 51.2% of the ITGA2B gene and 19.4% of the larger ITGB3 gene

      Gene: ITGA2B

      Variant: NM_000419.3:c.1553T>A (p.Ile518Asn) and NM_000419.3:c.1946+3G>T

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8603038 and CA626121071

      gnomAD: MAF in the European (non-Finnish) population is 0.000008790 https://gnomad.broadinstitute.org/variant/17-42457661-A-T and MAF in the African population for NM_000419.3:c.1946+3G>T is 0.000 https://gnomad.broadinstitute.org/variant/17-42456008-C-A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Mutation:Intronic Zygosity:CompoundHeterozygous CAiD:CA8603038 CAiD:CA626121071 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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